In our cohort of patients with ISS the incidence of SHOX gene deletions is 6%, in accordance with some of the previous reports. Auxological measurements of body proportions (mesomelia), the presence of minor skeletal abnormalities, and the search for subtle radiographic signs are important keys leading to the appropriate indication for genetic analysis.
Incidence of SHOX deficiency in a cohort of Italian children with idiopathic short stature / R., Minari; A., Vottero; S., Azzolini; D., Barbaro; C., Burrai; G. M., Cardinale; D., Cioffi; M. S., Coccioli; M., Ferrari; F., Gallarotti; F., Gallo; R., Montinaro; G., Municchi; A., Panariello; M., Parpagnoli; L., Perrone; G., Radetti; A. F., Radicioni; A., Rossodivita; M. C., Salerno; L., Tafi; A., Tummolo; M., Wasniewska; Iughetti, Lorenzo; S., Bernasconi. - In: HORMONE RESEARCH IN PAEDIATRICS. - ISSN 1663-2818. - STAMPA. - 80(S1):(2013), pp. 297-297. (Intervento presentato al convegno ESPE Meeting tenutosi a Milano nel 19-22/09/2013).
Incidence of SHOX deficiency in a cohort of Italian children with idiopathic short stature
IUGHETTI, Lorenzo;
2013
Abstract
In our cohort of patients with ISS the incidence of SHOX gene deletions is 6%, in accordance with some of the previous reports. Auxological measurements of body proportions (mesomelia), the presence of minor skeletal abnormalities, and the search for subtle radiographic signs are important keys leading to the appropriate indication for genetic analysis.Pubblicazioni consigliate
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